nsv7053757
- Organism: Homo sapiens
- Study:nstd229 (Jun et al. 2023)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:150,677
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 974 SVs from 83 studies. See in: genome view
Overlapping variant regions from other studies: 879 SVs from 79 studies. See in: genome view
Overlapping variant regions from other studies: 305 SVs from 42 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv7053757 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000001.11 | Chr1 | 145,861,640 | 146,012,316 | ||
| nsv7053757 | Remapped | Good | GRCh37.p13 | Primary Assembly | Second Pass | NC_000001.10 | Chr1 | 145,422,688 | 145,573,428 |
| nsv7053757 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,677,053 | 2,827,729 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv18742070 | inversion | Sequencing | Split read and paired-end mapping |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv18742070 | Submitted genomic | NC_000001.11:g.145 861640_146012316in v | GRCh38 (hg38) | NC_000001.11 | Chr1 | 145,861,640 | 146,012,316 | ||
| nssv18742070 | Remapped | Perfect | NW_003871055.3:g.2 677053_2827729inv | GRCh37.p13 | First Pass | NW_003871055.3 | Chr1|NW_00 3871055.3 | 2,677,053 | 2,827,729 |
| nssv18742070 | Remapped | Good | NC_000001.10:g.145 422688_145573428in v | GRCh37.p13 | Second Pass | NC_000001.10 | Chr1 | 145,422,688 | 145,573,428 |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Complete genotype and/or allele frequency data for this study can be found on dbVar's FTP site.
Genotype Information
| Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
|---|---|---|---|
| nssv18742070 | 4e-06 | 1 | 276268 |